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Ophthalmic Genetics Volume 25, 2004 - Issue 4
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Research Article

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients

Leila Tiab IRO - Institut de Recherche en Ophtalmologie Sion Switzerland
,
Violaine d'Allèves Manzi Hôpital Ophtalmique Jules Gonin Lausanne Switzerland
,
François-Xavier Borruat Service Universitaire d'Ophtalmologie, Université de Lausanne Lausanne Switzerland
,
Francis Munier IRO - Institut de Recherche en Ophtalmologie Sion Switzerland
&
Daniel Schorderet Hôpital Ophtalmique Jules Gonin Lausanne Switzerland
Pages 241-246 | Published online: 08 Jul 2009

References

  • Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 1997;41(3): 314–325.
  • Wang SM, Zwaan J, Mullaney PB, Jabak MH, AL-Awad A, Beggs AH et al. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 1 iqi3. Am J Hum Genet. 1998;63:517–525.
  • Appukuttan B, Gillanders E, Juo S-H, Freas-Lutz D, Ott S, Sood R et al. Localisation of a gene for Duane retraction sydrome to chromosome 2931. Am J Hum Genet. 1999;65: 1639-1646.
  • Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan W-M, Yazdani M. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFE0M2). Am J Ophthalmol. 2003;136(5):861–865.
  • Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC. CFE0M3: A new extraocular congenital fibrosis sydrome that maps to 16924.2-924.3. Invest Ophthalmol Vis Sci. 1999;40(8): 1687–1694.
  • Engle EC, Marondel I, Houtman WA, de Vries B, Loewenstein A, Lazar M et al. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995;57(5):1086–1094.
  • Uyama E, Yamada K, Kawano H, Chan WM, Andrews C, Yoshioka M et aL A Japanese family with FE0Mr-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOMI critical region. Neuromuscular Disorders. 2003;13:472–478.
  • Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994; 7(I):69–73.
  • Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T et al. Heterozygous mutations of the kinesin KIF2IA in congenital fibrosis of the extraocular muscles type 1 (CI-EOMI). Nat Genet. 2003;35(4):318–321.
  • Engle EC. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann NY Acad Sci. 2002;956:55–63.

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